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BF - MM4

Cystic Fibrosis

QuestionAnswer
What type of inheritance in CF? Autosomal dominant
What to organs/ systems does CF affect? Lungs + GIT
What is the result of the defective gene? Production of unusually thick sticky mucus
What are the two main results of this think sticky mucus? Clogs the lungs and clogs the pancreas
What is the result of the mucus clogging the lungs? Life-threatening lung infections
What is the result of the mucus clogging the pancreas? Stops enzymes being released that help break down and absorb food
What are the six symptoms? 1. Taste? 2. Lungs? (3) 3. Poor...but good...? 4. Frequent...? 1. Salty tasting skin 2. Coughing, wheezing and frequent lung diseases 3. Poor growth but good apetite 4. Frequent greasy, bulky stools
Sweat glands (normal) - Fluid produced in secretory coil is rich in? NaCl
Sweat glands (normal) - NaCl secretion is modified in the duct by? NaCl reabsorption (without H2O)
Sweat glands (normal) - If NaCl is reabsorbed without H2O, the solution becomes more hypertonic/hypotonic/ same? Hypotonic
Sweat glands (normal) - The duct lumen has a -ve/+ve/ same electrical charge when compared to outside the duct? -ve
Sweat glands (normal) - So lumen is -vely charged, how do Na+ ions get reabsorbed? Actively pumped out
Sweat glands (normal) - So lumen is -vely charged, how is cl- reabsorbed? Passive movement through Cl- channels
Sweat glands (CF) - Therefore what is the pathophysiology in CF? Defect Cl- channels (with low permeability) -> secretion remains -vely charged.
Pancreas duct cell (normal) - What is actively pumped out of the apical membrane into the lumen? Cl-
Pancreas duct cell (normal)- Is Cl- being pumped into lumen active/ passive? Active
Pancreas duct cell (normal) - HCO3- is needed in the stomach to do what? Neutralize stomach acid
Secretory glands (normal)- Is HCO3- pumped into/ out of the lumen? Into
Secretory glands (normal)- What is HCO3- exchanged for when pumped into the lumen? Cl-
Pancreas duct cell (normal)- When being exchanged for HCO3-, does Cl- move up/down its concentration gradient? Why? moves down its concentration gradient due to active pumping of Cl- into lumen
Pancreas duct cell (CF)- What does a deficient cAMP/Cl- pump lead to? (2) Decreased Cl- to exchange for HCO3-, therefore less HCO3- in secretion (in lumen)
Pancreas duct cell (CF)- What does decreased HCO3- in secretion lead to? (2) -> (1) Mucins are poorly solublized and less transportable -> stasis of mucus
What gene codes for the chloride channel? CFTR gene
What is the Cl channel activated by? Phosphorlyation
What is the genetic mutation present in CFTR gene that causes CF? (1) Deletion of three bases
What does the deletion of 3 bases in the CTFR gene lead to? (3) Misfolding of channels -> degredation of channels --> decreased concentration of Cl- channels in CF patients
How could gene therapy be used as a potential cure for CF? Replace the faulty CFTR gene with a normal one
*For treatments see flow
Lungs (normal) - What is the role of CFTR channels? Secretion of Cl- (fluid)
Lungs (normal) - What is the role of ENaC channels? Absorption of Cl- (fluid)
Lungs (normal) - What is the interaction between CFTR and ENaC? Work in balance
Lungs (CF) - What does the down regulation of CFTR lead to? (Increased/ decreased -> ?) Decreased secretion and increased absorption leading to volume depletion
Lungs (CF) - What does volume depletion lead to? Decreased mucociliary clearance
Lungs (CF) - What is the treatment? Block ENaC channels -> No absorption or secretion
Created by: benfenner1
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